FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2016468286> ?p ?o ?g. }

• W2016468286 endingPage "1112" @default.
• W2016468286 startingPage "1107" @default.
• W2016468286 abstract "SummaryWe report that the Bjornstad syndrome gene maps to chromosome 2q34-36. The clinical association of sensorineural hearing loss with pili torti (broken, twisted hairs) was described >30 years ago by Bjornstad; subsequently, several small families have been studied. We evaluated a large kindred with Bjornstad syndrome in which eight members inherited pili torti and prelingual sensorineural hearing loss as autosomal recessive traits. A genomewide search using polymorphic loci demonstrated linkage between the disease gene segregating in this kindred and D2S434 (maximum two-point LOD score = 4.98 at θ = 0). Haplotype analysis of recombination events located the disease gene in a 3-cM region between loci D2S1371 and D2S163. We speculate that intermediate filament and intermediate filament-associated proteins are good candidate genes for causing Bjornstad syndrome. We report that the Bjornstad syndrome gene maps to chromosome 2q34-36. The clinical association of sensorineural hearing loss with pili torti (broken, twisted hairs) was described >30 years ago by Bjornstad; subsequently, several small families have been studied. We evaluated a large kindred with Bjornstad syndrome in which eight members inherited pili torti and prelingual sensorineural hearing loss as autosomal recessive traits. A genomewide search using polymorphic loci demonstrated linkage between the disease gene segregating in this kindred and D2S434 (maximum two-point LOD score = 4.98 at θ = 0). Haplotype analysis of recombination events located the disease gene in a 3-cM region between loci D2S1371 and D2S163. We speculate that intermediate filament and intermediate filament-associated proteins are good candidate genes for causing Bjornstad syndrome." @default.
• W2016468286 created "2016-06-24" @default.
• W2016468286 creator A5002262805 @default.
• W2016468286 creator A5005091829 @default.
• W2016468286 creator A5010453074 @default.
• W2016468286 creator A5029989638 @default.
• W2016468286 creator A5033449975 @default.
• W2016468286 creator A5037891681 @default.
• W2016468286 creator A5068461580 @default.
• W2016468286 creator A5073164836 @default.
• W2016468286 creator A5088333346 @default.
• W2016468286 creator A5089189994 @default.
• W2016468286 date "1998-05-01" @default.
• W2016468286 modified "2023-10-09" @default.
• W2016468286 title "The Bjornstad Syndrome (Sensorineural Hearing Loss and Pili Torti) Disease Gene Maps to Chromosome 2q34-36" @default.
• W2016468286 cites W1525233566 @default.
• W2016468286 cites W1978093629 @default.
• W2016468286 cites W1981174412 @default.
• W2016468286 cites W1987107709 @default.
• W2016468286 cites W2009581629 @default.
• W2016468286 cites W2010444336 @default.
• W2016468286 cites W2017248864 @default.
• W2016468286 cites W2018946733 @default.
• W2016468286 cites W2020693400 @default.
• W2016468286 cites W2023322190 @default.
• W2016468286 cites W2030584251 @default.
• W2016468286 cites W2037534244 @default.
• W2016468286 cites W2038524285 @default.
• W2016468286 cites W2042483822 @default.
• W2016468286 cites W2056786863 @default.
• W2016468286 cites W2072485676 @default.
• W2016468286 cites W2072523045 @default.
• W2016468286 cites W2078620931 @default.
• W2016468286 cites W2088536629 @default.
• W2016468286 cites W2098342899 @default.
• W2016468286 cites W2143138993 @default.
• W2016468286 cites W2319131382 @default.
• W2016468286 cites W2413875168 @default.
• W2016468286 cites W2415803339 @default.
• W2016468286 cites W4236871303 @default.
• W2016468286 cites W4322384960 @default.
• W2016468286 doi "https://doi.org/10.1086/301837" @default.
• W2016468286 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1377094" @default.
• W2016468286 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9545407" @default.
• W2016468286 hasPublicationYear "1998" @default.
• W2016468286 type Work @default.
• W2016468286 sameAs 2016468286 @default.
• W2016468286 citedByCount "23" @default.
• W2016468286 countsByYear W20164682862012 @default.
• W2016468286 countsByYear W20164682862013 @default.
• W2016468286 countsByYear W20164682862014 @default.
• W2016468286 countsByYear W20164682862015 @default.
• W2016468286 countsByYear W20164682862016 @default.
• W2016468286 countsByYear W20164682862020 @default.
• W2016468286 crossrefType "journal-article" @default.
• W2016468286 hasAuthorship W2016468286A5002262805 @default.
• W2016468286 hasAuthorship W2016468286A5005091829 @default.
• W2016468286 hasAuthorship W2016468286A5010453074 @default.
• W2016468286 hasAuthorship W2016468286A5029989638 @default.
• W2016468286 hasAuthorship W2016468286A5033449975 @default.
• W2016468286 hasAuthorship W2016468286A5037891681 @default.
• W2016468286 hasAuthorship W2016468286A5068461580 @default.
• W2016468286 hasAuthorship W2016468286A5073164836 @default.
• W2016468286 hasAuthorship W2016468286A5088333346 @default.
• W2016468286 hasAuthorship W2016468286A5089189994 @default.
• W2016468286 hasBestOaLocation W20164682861 @default.
• W2016468286 hasConcept C104317684 @default.
• W2016468286 hasConcept C122735190 @default.
• W2016468286 hasConcept C142870003 @default.
• W2016468286 hasConcept C180754005 @default.
• W2016468286 hasConcept C197754878 @default.
• W2016468286 hasConcept C2780274975 @default.
• W2016468286 hasConcept C2780493683 @default.
• W2016468286 hasConcept C2780607864 @default.
• W2016468286 hasConcept C2781114197 @default.
• W2016468286 hasConcept C2910535243 @default.
• W2016468286 hasConcept C30481170 @default.
• W2016468286 hasConcept C54355233 @default.
• W2016468286 hasConcept C548259974 @default.
• W2016468286 hasConcept C69991583 @default.
• W2016468286 hasConcept C71924100 @default.
• W2016468286 hasConcept C86803240 @default.
• W2016468286 hasConceptScore W2016468286C104317684 @default.
• W2016468286 hasConceptScore W2016468286C122735190 @default.
• W2016468286 hasConceptScore W2016468286C142870003 @default.
• W2016468286 hasConceptScore W2016468286C180754005 @default.
• W2016468286 hasConceptScore W2016468286C197754878 @default.
• W2016468286 hasConceptScore W2016468286C2780274975 @default.
• W2016468286 hasConceptScore W2016468286C2780493683 @default.
• W2016468286 hasConceptScore W2016468286C2780607864 @default.
• W2016468286 hasConceptScore W2016468286C2781114197 @default.
• W2016468286 hasConceptScore W2016468286C2910535243 @default.
• W2016468286 hasConceptScore W2016468286C30481170 @default.
• W2016468286 hasConceptScore W2016468286C54355233 @default.
• W2016468286 hasConceptScore W2016468286C548259974 @default.
• W2016468286 hasConceptScore W2016468286C69991583 @default.
• W2016468286 hasConceptScore W2016468286C71924100 @default.
• W2016468286 hasConceptScore W2016468286C86803240 @default.

• next